nsv6252069
- Organism: Homo sapiens
- Study:nstd215 (Prakrithi et al. 2022)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Prakrithi et al. 2022
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 91 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6252069 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 30,465,142 | 30,465,142 | ||
nsv6252069 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 30,861,129 | 30,861,129 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17851778 | alu insertion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17851778 | Submitted genomic | NC_000022.11:g.304 65142_30465143ins2 80 | GRCh38 (hg38) | NC_000022.11 | Chr22 | 30,465,142 | 30,465,142 | ||
nssv17851778 | Remapped | Perfect | NC_000022.10:g.308 61129_30861130ins2 80 | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 30,861,129 | 30,861,129 |